机译：罗马的创始人BIN1突变引起的小说表型与刚性centronuclear肌病脊柱
Univ Pompeu Fabra, Dept Expt & Hlth Sci, Inst Evolutionary Biol, CSIC, Barcelona, Spain;
Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA, Australia;
Hosp Univ Virgen del Rocio, Inst Biomed Sevilla IBiS, Seville, SpainHosp Univ Politecn La Fe, Dept Neurol, Valencia, SpainHosp Gen Univ Santa Lucia, Dept Neurol, Consulta Enfermedades Neuromusculares, Murcia, SpainHosp Univ Virgen del Rocio, Unidad Enfermedades Neuromusculares, Dept Neurol, Seville, SpainHosp Univ Virgen del Rocio, Dept Pathol, Neuropathol Unit, Seville, SpainHosp Torrecardenas, Dept Neurol, Almeria, SpainHosp Gen Univ Santa Lucia, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Consulta EnfermedadesIGBMC, Illkirch Graffenstaden, FranceCHRU, Lab Diagnost Genet, Fac Med, Strasbourg, FranceHosp Univ 12 Octubre, Dept Pathol Neuropathol, Res Inst, Madrid, SpainPathWest Lab Med WA, Dept Diagnost Genom, Perth, WA, AustraliaHosp Bellvitge Princeps Espanya, Neuropathol Unit, Dept Pathol, IDIBELL, Barcelona, SpainHosp 12 Octubre, Dept Neurol, Madrid, SpainHosp Virgen de las Nieves, Dept Neurol, Granada, SpainGrp Hosp Univ La Pitie Salpetriere, Unite Morphol Neuromusculaire, Ctr Reference Pathol;
Rigid; Phenotype; MutationCentronuclear Myopathy;
机译：A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family
机译：One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A G mutation
机译：The rigid spine syndrome--a myopathy of uncertain nosological position.
机译：Roma创始人BIN1突变导致具有刚性脊柱的中心核肌病的新表型
机译：罗马创始人Bin1突变导致刚性脊柱的Centronuclear肌病的新表型
