Neuromuscular Disorders

Article	Citations
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go	92
The 2021 version of the gene table of neuromuscular disorders (nuclear genome)	45
Fatigue in patients with myasthenia gravis. A systematic review of the literature	43
Combining genetics, neuropsychology and neuroimaging to improve understanding of brain involvement in Duchenne muscular dystrophy - a narrative review	41
Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy	39
Recent advances in nemaline myopathy	39
The 2022 version of the gene table of neuromuscular disorders (nuclear genome)	37
Guillain-Barré-Strohl syndrome and COVID-19: Case report and literature review	31
X-linked myotubular myopathy	31
Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen	29
Congenital muscular dystrophies: What is new?	28
The DMD gene and therapeutic approaches to restore dystrophin	27
Chronic pain is common in mitochondrial disease	25
Age and baseline values predict 12 and 24-month functional changes in type 2 SMA	25
Understanding European patient expectations towards current therapeutic development in spinal muscular atrophy	23
Strength-training effectively alleviates skeletal muscle impairments in myotonic dystrophy type 1	23
Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group	22
Gain and loss of abilities in type II SMA: A 12-month natural history study	22
Congenital myasthenic syndromes: where do we go from here?	21
Disease-modifying effects of edasalonexent, an NF-κB inhibitor, in young boys with Duchenne muscular dystrophy: Results of the MoveDMD phase 2 and open label extension trial	20
Cognitive impairment appears progressive in the mdx mouse	20
Immune checkpoint inhibitors (ICIs)-related ocular myositis	18
Two Japanese LGMDR25 patients with a biallelic recurrent nonsense variant of BVES	18
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies	18
Sarcoglycanopathies: an update	18

Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease	18
Nusinersen treatment of older children and adults with spinal muscular atrophy	17
Impact of a national population-based carrier-screening program on spinal muscular atrophy births	17
Prevalence and associated factors of fatigue in autoimmune myasthenia gravis	16
Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms	15
Mortality rates and causes of death in Swedish Myasthenia Gravis patients	15
Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial	15
249th ENMC International Workshop: The role of brain dystrophin in muscular dystrophy: Implications for clinical care and translational research, Hoofddorp, The Netherlands, November 29th–December 1st	14
Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study	14
Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients’ cohort from Qatar. A population specific founder variant	14
SARS-CoV-2 vaccination and new-onset myasthenia gravis: A report of 7 cases and review of the literature	14
Fatigue, physical activity and associated factors in 779 patients with myasthenia gravis	14
A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy	13
The 2023 version of the gene table of neuromuscular disorders (nuclear genome)	13
Real-world and natural history data for drug evaluation in Duchenne muscular dystrophy: suitability of the North Star Ambulatory Assessment for comparisons with external controls	13
Spinal muscular atrophy: from rags to riches	13
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients	13
Bilateral facial palsy with paresthesias, variant of Guillain-Barré syndrome following COVID-19 vaccine: A case series of 9 patients	13
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes	13
Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland	12
Physical training and exercise in myasthenia gravis	12
Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient	12
256th ENMC international workshop: Myositis specific and associated autoantibodies (MSA-ab): Amsterdam, The Netherlands, 8-10 October 2021	12
Effectiveness of thymectomy in juvenile myasthenia gravis and clinical characteristics associated with better outcomes	12
Dysphagia in adult myopathies	12
Longitudinal data of neuropsychological profile in a cohort of Duchenne muscular dystrophy boys without cognitive impairment	12
COVID-19 in advanced Duchenne/Becker muscular dystrophy patients	11
Pig models for Duchenne muscular dystrophy – from disease mechanisms to validation of new diagnostic and therapeutic concepts	11
Early safety and tolerability profile of the BNT162b2 COVID-19 vaccine in myasthenia gravis	11
Glucose and lipid metabolism disorders in children and adolescents with spinal muscular atrophy types 2 and 3	11
Beyond ambulation: Measuring physical activity in youth with Duchenne muscular dystrophy	11
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients	11
Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH)	11
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2	11
Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings	11
Rituximab in myasthenia gravis: efficacy, associated infections and risk of induced hypogammaglobulinemia	11
247th ENMC International Workshop: Muscle magnetic resonance imaging - Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts. Hoofddorp, The Netherlands, September 2019	11
Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia	11
Biomarkers of disease progression in adolescents and adults with 5q spinal muscular atrophy: a systematic review and meta-analysis	10
Clinical outcome of SARS-CoV-2 infection in 7 adults with Duchenne muscular dystrophy attending a specialist neuromuscular centre	10
Lack of effect on ambulation of dalfampridine-ER (4-AP) treatment in adult SMA patients	10
The glycomic sialylation profile of GNE Myopathy muscle cells does not point to consistent hyposialylation of individual glycoconjugates	10
The endocrine manifestations of spinal muscular atrophy, a real-life observational study	10
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter	10
Insulin-like growth factor-1 status is associated with insulin resistance in young patients with spinal muscular atrophy	10
Safety and clinical outcome of tamoxifen in Duchenne muscular dystrophy	10
Accuracy of patient-reported data for an online patient registry of autoimmune myasthenia gravis and Lambert-Eaton myasthenic syndrome	10
Patient and parent oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in SMA. Rome, 13 July 2019	10
Respiratory muscle training in late-onset Pompe disease: Results of a sham-controlled clinical trial	10
HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review	9

Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen	9
Newborn screening for spinal muscular atrophy: The Wisconsin first year experience	9
Cardiovascular disease in non-classic Pompe disease: A systematic review	9
Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs	9
Tasks and interfaces in primary and specialized palliative care for Duchenne muscular dystrophy – A patients’ perspective	9
Musculoskeletal magnetic resonance imaging in the DE50-MD dog model of Duchenne muscular dystrophy	9
Myasthenia gravis: do not forget the patient perspective	9
Corrigendum to “Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy” [Neuromuscular Disorders, Vol. 30 (6) 2020, 492-502]	9
Transportin 3 (TNPO3) and related proteins in limb girdle muscular dystrophy D2 muscle biopsies: A morphological study and pathogenetic hypothesis	9
Predictors of outcome in patients with myasthenic crisis undergoing non-invasive mechanical ventilation: A retrospective 20 year longitudinal cohort study from a single Italian center	9
1st FSHD European Trial Network workshop:Working towards trial readiness across Europe	9
Mutation spectrum and health status in skeletal muscle channelopathies in Japan	8
Oral bisphosphonate treatment in patients with Duchenne muscular dystrophy on long term glucocorticoid therapy	8
Genitourinary and lower gastrointestinal conditions in patients with myotonic dystrophy type 1: A systematic review of evidence and implications for clinical practice	8
The effectiveness and side effects of pyridostigmine in the treatment of myasthenia gravis: a cross-sectional study	8
Rituximab in chronic immune mediated neuropathies: a systematic review	8
AChR myasthenia gravis switching to MuSK or double antibody positive myasthenia gravis in two children and literature review	8
252nd ENMC international workshop: Developing best practice guidelines for management of mouthpiece ventilation in neuromuscular disorders. March 6th to 8th 2020, Amsterdam, the Netherlands	8
Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin	8
The functional and structural evaluation of small fibers in asymptomatic carriers of TTR p.Val50Met (Val30Met) mutation	8
Newborn screening of neuromuscular diseases	8
Utility of maximum inspiratory and expiratory pressures as a screening method for respiratory insufficiency in slowly progressive neuromuscular disorders	8
Exploring the efficacy of the expiratory muscle strength trainer to improve swallowing in inclusion body myositis: A pilot study	8
Characteristics of VCP mutation-associated cardiomyopathy	8
Managing pregnancy and anaesthetics in patients with skeletal muscle channelopathies	8
Screening for early symptoms of respiratory involvement in myotonic dystrophy type 1 using the Respicheck questionnaire	8
Epidemiology and treatment of myasthenia gravis: a retrospective study using a large insurance claims dataset in Germany	8
Clinical and molecular evidence of possible digenic inheritance for MFN2/GDAP1 genes in Charcot-Marie-Tooth disease	8
Subcutaneous immunoglobulin for maintenance therapy in stiff-person syndrome: One-year follow-up in two patients	7
Expiratory dysfunction in young dogs with golden retriever muscular dystrophy	7
Respiratory muscle function in patients with nemaline myopathy	7
The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure	7
Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome	7
Spontaneous symptomatic improvement in a pediatric patient with anti-3-hydroxy-3-methylglutraryl-coenzyme A reductase myopathy	7
Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene	7
A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features	7
Effect of long term enzyme replacement therapy in late onset Pompe disease: A single-centre experience	7
Prevalence of atrial fibrillation in myotonic dystrophy type 1: A systematic review	7
Natural history of 10-meter walk/run test performance in spinal muscular atrophy: A longitudinal analysis	7
Congenital myasthenic syndromes in the Thai population: Clinical findings and novel mutations	7
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism	7
A web-based questionnaire survey on the influence of coronavirus disease-19 on the care of patients with muscular dystrophy	7
Home-based exercise in autoimmune myasthenia gravis: A randomized controlled trial	7
Efficacy and safety of tacrolimus as long-term monotherapy for myasthenia gravis	7
A new respiratory scoring system for evaluation of respiratory outcomes in children with spinal muscular atrophy type1 (SMA1) on SMN enhancing drugs	7
Psychological parameters impact health-related quality of life in mental and physical domains in adults with muscular dystrophy	6
Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants	6
Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing	6
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance: Report of four patients	6
Muscular dystrophy-dystroglycanopathy in a family of Labrador retrievers with a LARGE1 mutation	6
A novel nonsense variant in MT-CO3 causes MELAS syndrome	6
259th ENMC international workshop: Anaesthesia and neuromuscular disorders 11 December, 2020 and 28–29 May, 2021	6
LATE BREAKING NEWS ORAL PRESENTATION	6
Late onset Pompe Disease in India – Beyond the Caucasian phenotype	6
mRNA intramuscular vaccination produces a robust IgG antibody response in advanced neuromuscular disease	6
Factors associated with delayed diagnosis of spinal muscular atrophy in China and changes in diagnostic delay	6
Genetic neuropathies presenting with CIDP-like features in childhood	6
Inflammatory myopathies in childhood	6
Reliability and validity of the FSHD-composite outcome measure in childhood facioscapulohumeral dystrophy	6
Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering	6
Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant	6
Intracranial hemorrhage secondary to vitamin K deficiency in X-linked myotubular myopathy	6
Risk factors and future directions for preventing and diagnosing exertional rhabdomyolysis	6
Longer-term follow-up of nusinersen efficacy and safety in adult patients with spinal muscular atrophy types 2 and 3	5
Acute severe sensory ganglionopathy in systemic lupus erythematous	5
A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity	5
A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels	5
Clinical characteristics and outcome in muscular sarcoidosis: a retrospective cohort study and literature review	5
Language, speech, and oromotor function in children with Pompe disease	5
A late-onset congenital myasthenic syndrome due to a heterozygous DOK7 mutation	5
Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking, and Research Network	5
Cerebral involvement and related aspects in myotonic dystrophy type 2	5
Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion	5
Clinical and muscle MRI features in a family with tubular aggregate myopathy and novel STIM1 mutation	5
Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping	5
Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype	5
SMA – THERAPY	5
Expiratory muscle strength training improves measures of pressure generation and cough strength in a patient with myotonic dystrophy type 1	5
Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene	5
Impaired secretion of platelet granules in patients with Duchenne muscular dystrophy – results of a prospective diagnostic study	5

TNNT1 myopathy with novel compound heterozygous mutations	5
A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: A case report	5
Serum miRNAs as biomarkers for the rare types of muscular dystrophy	5
GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease	5
Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy	5
DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism	5
Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings	5
246th ENMC International Workshop: Protein aggregate myopathies 24–26 May 2019, Hoofddorp, The Netherlands	5
Optimizing hand-function patient outcome measures for inclusion body myositis	5
LATE BREAKING NEWS E-POSTER PRESENTATION	5
250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6–8 September 2019, Hoofdorp, the Netherlands	5
Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease	5
Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophy	5
Cognitive profiles and clinical factors in type III spinal muscular atrophy: a preliminary study	5
Idiopathic eosinophilic myositis: a systematic literature review	5
Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants	5
Muscle “islands”: An MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness	5
Refractory CIDP successfully treated with autologous haematopoietic stem cell transplantation in a patient with monoclonal gammopathy of undetermined significance (MGUS) and rheumatoid arthritis	4
Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy	4
Early pathological signs in young dysf mice are improved by halofuginone	4
Risk of malignant hyperthermia in patients carrying a variant in the skeletal muscle ryanodine receptor 1 gene	4
Diaphragmatic dysfunction in neuromuscular disease, an MRI study	4
Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study	4
The impact of testosterone therapy on quality of life in adolescents with Duchenne muscular dystrophy	4
Long term follow-up of scoliosis progression in type II SMA patients	4
265th ENMC International Workshop: Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22–24 April 2022, Hoofddorp, The Netherlands	4
A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation	4
Changes in walking velocity and stride parameters with age in children with Charcot-Marie-Tooth disease	4
“Status myotonicus” in Nav1.4-M1592V channelopathy	4
SMA – THERAPY	4
Quantitative vs qualitative muscle MRI: Imaging biomarker in patients with Oculopharyngeal Muscular Dystrophy (OPMD)	4
High prevalence of sporadic late-onset nemaline myopathy in a cohort of whole-exome sequencing negative myopathy patients	4
Frontal lobe-dominant cerebral blood flow reduction and atrophy can be progressive in Duchenne muscular dystrophy	4
Intellectual disability in paediatric patients with genetic muscle diseases	4
Motor unit number index (MUNIX) in children and adults with 5q-spinal muscular atrophy: Variability and clinical correlations	4
Congenital myopathy and epidermolysis bullosa due to PLEC variant	4
251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands	4
Is it Pompe Disease? Australian diagnostic considerations	4
264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021	4
MRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report	4
DMD – THERAPY	4
SMALED2 with BICD2 gene mutations: Report of two cases and portrayal of a classical phenotype	4
Adalimumab and myositis: A case report and review of the French and international Pharmacovigilance Databases	4
Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant	4
Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patients	4
No effect of oral sucrose or IV glucose during exercise in phosphorylase b kinase deficiency	4
Analysis of complex structural variants in the DMD gene in one family	4
Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores	4
Randomisation versus prioritisation in a managed access programme: Lessons from spinal muscular atrophy	4
Long-term effects of enzyme replacement therapy in an elderly cohort of late-onset Pompe disease	4
The phenotypic and genotypic features of a Scottish cohort with McArdle disease	4
Chronic mimics of myasthenia gravis: a retrospective case series	4
Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy	4
Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern	4
Characterization of cannabis use by patients with myotonic dystrophy type 1: A pilot study	4
Primary mitochondrial myopathies in childhood	4
Lack of muscle stem cell proliferation and myocellular hypertrophy in sIBM patients following blood-flow restricted resistance training	4
Filling the gaps in knowledge translation: Physical therapy recommendations for individuals with spinal muscular atrophy compared to standard of care guidelines	4
BMI-z scores of boys with Duchenne muscular dystrophy already begin to increase before losing ambulation: a longitudinal exploration of BMI, corticosteroids and caloric intake	4
SMA – THERAPY	4
Fatal disseminated Anncaliia algerae myositis mimicking polymyositis in an immunocompromised patient	4
Clinical trajectory of a patient with filaminopathy who developed arrhythmogenic cardiomyopathy, myofibrillar myopathy, and multiorgan tumors	4
Autoantibody profile in a Malaysian cohort of chronic inflammatory demyelinating polyneuropathy	4
Reducing body myopathy – A new pathogenic FHL1 variant and literature review	4
Respiratory decline in adult patients with Becker muscular dystrophy: A longitudinal study	4
Neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients	3
SMA – THERAPY	3
267th ENMC International workshop: psychological interventions for improving quality of life in slowly progressive neuromuscular disorders	3
Myoneuropathic presentation of limb girdle muscular dystrophy R8 with a novel TRIM32 mutation	3
Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome	3
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing	3
VP278 The emerging spectrum of fetal acetylcholine receptor antibody-associated disorders (FARAD)	3
Influence of β2 adrenergic receptor genotype on longitudinal measures of forced vital capacity in patients with Duchenne muscular dystrophy	3
Correlations of disease severity outcome measures in inclusion body myositis	3
Third case of Duchenne muscular dystrophy and West syndrome: Expanding the spectrum of the DMD neuropsychiatric phenotype	3
Ranolazine-induced lipid storage myopathy presenting with respiratory failure and head drop	3
Protein aggregates and autophagy involvement in a family with a mutation in Z-band alternatively spliced PDZ-motif protein	3
Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy	3
Clinical characteristics and prognosis of very late-onset myasthenia gravis in China	3
Characterizing cognitive-motor impairments in patients with myotonic dystrophy type 1	3
An autopsied case of ADSSL1 myopathy	3
Whole-body muscle MRI in McArdle disease	3
Facioscapulohumeral Muscular Dystrophy and Poliomyelitis followed by Multiple Sclerosis: A “triple trouble” case report and review of the literature on the association of MS and muscle disorders	3
A family with adult-onset myofibrillar myopathy with BAG3 mutation (P470S) presenting with axonal polyneuropathy	3
NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants	3
DMD & BMD – CLINICAL	3
Two decades of advances in muscle imaging in children: from pattern recognition of muscle diseases to quantification and machine learning approaches	3
Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease – Case series and review	3
Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations	3
Results of an open label feasibility study of sodium valproate in people with McArdle disease	3
Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country	3
A novel missense HNRNPA1 variant in the PY-NLS domain in a patient with late-onset distal myopathy	3
Dystrophinopathy and the brain: A parent project muscular dystrophy (PPMD) meeting report November 11-12, 2021, New York City, NY	3
Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly	3
Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1	3