Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy

Human Mutation

Volumn 14, Issue 4, 1999, Pages 320-325

  Buj Bello, Anna ^a   Biancalana, Valérie ^b   Moutou, Céline ^b   Laporte, Jocelyn ^a   Mandel, Jean Louis ^a  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b UNIVERSITÉ DE STRASBOURG   (France)

Author keywords

MTM1; Myotubular myopathy, X linked, mild; Myotubularin; Phosphatase; XLMTM

Indexed keywords

PHOSPHATASE;

ADOLESCENT; ARTICLE; CENTRONUCLEAR MYOPATHY; CHILD; CLINICAL ARTICLE; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

ADOLESCENT; CHILD; CHROMOSOME MAPPING; DNA; EXONS; FEMALE; FRAMESHIFT MUTATION; GENOMIC IMPRINTING; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN-TYROSINE-PHOSPHATASE; SEQUENCE DELETION; VARIATION (GENETICS); X CHROMOSOME;

EID: 0032870431     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O     Document Type: Article

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