KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors

Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state

(2015) Koya Kawase et al.   BRAIN & DEVELOPMENT

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

(2014) Ankit Garg et al.   JOURNAL OF CLINICAL INVESTIGATION

Congenital myopathies: Natural history of a large pediatric cohort

(2014) I. Colombo et al.   NEUROLOGY

Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature

(2014) Pedro M. Rodríguez Cruz et al.   NEUROMUSCULAR DISORDERS

RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine

(2014) M.A. Illingworth et al.   NEUROMUSCULAR DISORDERS

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

(2013) Gianina Ravenscroft et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy

(2013) Elizabeth M. Gibbs et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children

(2013) Andrea Klein et al.   NEUROMUSCULAR DISORDERS

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

(2013) L. Maggi et al.   NEUROMUSCULAR DISORDERS

Approach to the diagnosis of congenital myopathies

(2013) Kathryn N. North et al.   NEUROMUSCULAR DISORDERS

An Integrated Diagnosis Strategy for Congenital Myopathies

(2013) Johann Böhm et al.   PLoS One

Congenital Myopathies: An Update

(2012) Jessica R. Nance et al.   Current Neurology and Neuroscience Reports

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome

(2012) Judith Cossins et al.   HUMAN MOLECULAR GENETICS

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

(2011) Stephanie A. Robb et al.   NEUROMUSCULAR DISORDERS

Nemaline Myopathies

(2011) Carina Wallgren-Pettersson et al.   Seminars in Pediatric Neurology

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7

(2010) D. Lashley et al.   NEUROLOGY

PHENOTYPE OF A PATIENT WITH RECESSIVE CENTRONUCLEAR MYOPATHY AND A NOVEL BIN1 MUTATION

(2010) K. G. Claeys et al.   NEUROLOGY

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia

(2010) P. Munot et al.   NEUROMUSCULAR DISORDERS

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7

(2009) A. Ben Ammar et al.   JOURNAL OF NEUROLOGY

Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations

(2009) U. Schara et al.   NEUROMUSCULAR DISORDERS

Congenital myopathies

(2008) Caroline A Sewry et al.   CURRENT OPINION IN NEUROLOGY