A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

Neuromuscular Disorders

Volumn 21, Issue 4, 2011, Pages 254-262

  Ortolano, Saida ^a   Tarrío, Rosa ^b   Blanco Arias, Patricia ^b,c   Teijeira, Susana ^a   Rodríguez Trelles, Francisco ^c,d   García Murias, María ^c   Delague, Valerie ^e   Lévy, Nicolas ^e,f   Fernández, José M ^g   Quintáns, Beatriz ^b   Millán, Beatriz San ^a   Carracedo, Ángel ^b,c,h   Navarro, Carmen ^a,b,h   Sobrido, María Jesús ^b,h  

^a HOSPITAL DO MEIXOEIRO   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^d UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^e AIX MARSEILLE UNIVERSITY   (France)

^f TIMONE HOSPITAL   (France)

^g University Hospital of Vigo (Xeral Cies)   (Spain)

^h Fundacion Publica Galega de Medicina Xenomica   (Spain)

Author keywords

Congenital fiber type disproportion; Mutation; MYH7; Myosin storage myopathy

Indexed keywords

MYOSIN; MYOSIN HEAVY CHAIN BETA; SLOW MYOSIN HEAVY CHAIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL FIBER TYPE DISPROPORTION; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; HUMAN TISSUE; MUSCLE BIOPSY; MYH7 GENE; MYOPATHY; MYOSIN STORAGE MYOPATHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

BASE SEQUENCE; CARDIAC MYOSINS; DNA; FAMILY; FLUORESCENT ANTIBODY TECHNIQUE; GENE EXPRESSION REGULATION; GENETIC LINKAGE; HUMANS; IMMUNOHISTOCHEMISTRY; ISOMERISM; MICROSCOPY, ELECTRON; MOLECULAR SEQUENCE DATA; MUSCLE FIBERS, SKELETAL; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; MYOSIN HEAVY CHAINS; MYOSINS; PEDIGREE; PHENOTYPE; RNA;

EID: 79952759319     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.12.011     Document Type: Article

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