Recently Identified Congenital Myopathies.

[1]  R. Newbury-Ecob,et al.  P.294 An unclassified congenital myopathy diagnosed as Snyder Robinson syndrome identified through the deciphering developmental disorders study , 2017, Neuromuscular Disorders.

[2]  B. Schoser,et al.  P.47 Congenital centronuclear myopathy and epidermolysis bullosa due to two novel mutations in the plectin gene , 2017, Neuromuscular Disorders.

[3]  Janice S. Lee,et al.  A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome , 2017, Nature Communications.

[4]  C. Marshall,et al.  Congenital myopathy with “corona” fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A , 2017, Neuromuscular Disorders.

[5]  Sathya D. Unudurthi,et al.  A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness , 2017, Human Genetics.

[6]  B. Neubauer,et al.  Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy , 2017, Neuropediatrics.

[7]  D. Tester,et al.  P.444 Congenital myopathy associated with the Triadin knockout syndrome , 2017, Neuromuscular Disorders.

[8]  W. Schmidt,et al.  Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation , 2017, European Journal of Human Genetics.

[9]  E. Malfatti,et al.  Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation , 2017, Neuromuscular Disorders.

[10]  F. Rivier,et al.  The 2017 version of the gene table of monogenic neuromuscular disorders (nuclear genome) , 2016, Neuromuscular Disorders.

[11]  G. Ravenscroft,et al.  P.90 Autosomal dominant lower limb restricted congenital myopathy , 2016, Neuromuscular Disorders.

[12]  M. Schuelke,et al.  Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects , 2016, Acta Neuropathologica.

[13]  M. Tulinius,et al.  Novel myopathy in a newborn with Shwachman–Diamond syndrome and review of neonatal presentation , 2016, American journal of medical genetics. Part A.

[14]  C. Krarup,et al.  Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy , 2015, Brain : a journal of neurology.

[15]  E. Malfatti,et al.  A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy , 2015, Neuromuscular Disorders.

[16]  K. Bushby,et al.  Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β‐Cardiac Myosin (MYH7) Distal Myopathy , 2014, Human mutation.

[17]  Jeremy W. Linsley,et al.  Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy , 2013, Nature Communications.

[18]  Jun Z. Li,et al.  Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. , 2012, American journal of human genetics.

[19]  Gert Matthijs,et al.  CDG nomenclature: time for a change! , 2009, Biochimica et biophysica acta.

[20]  M. Bahlo,et al.  Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. , 2008, American journal of human genetics.

[21]  J. Gilbert,et al.  Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1 , 2008, Neurology.

[22]  E. Marszał,et al.  Lipid raft disease? A new severe congenital myopathy. , 2007, Folia neuropathologica.

[23]  J. Janda,et al.  Freeman-Sheldon syndrome: a disorder of congenital myopathic origin? , 1986, Journal of medical genetics.

[24]  R. Anderson,et al.  Central-core disease and malignant hyperpyrexia. , 1973, British medical journal.

[25]  V. Dubowitz.  The “New” Myopathies , 1969 .