MTM1 mutations in X-linked myotubular myopathy

Human Mutation

Volumn 15, Issue 5, 2000, Pages 393-409

  Laporte, Jocelyn ^a   Biancalana, Valérie ^b   Tanner, Stephan M ^c,f   Kress, Wolfram ^d   Schneider, Vreni ^c   Wallgren Pettersson, Carina ^e   Herger, Franziska ^c   Buj Bello, Anna ^a   Blondeau, François ^a   Liechti Gallati, Sabina ^c   Mandel, Jean Louis ^a,b  

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

^b UNIVERSITÉ DE STRASBOURG   (France)

^c UNIVERSITY OF BERN   (Switzerland)

^d UNIVERSITY OF WÜRZBURG   (Germany)

^e UNIVERSITY OF HELSINKI   (Finland)

^f THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

Congenital myopathy; Diagnosis; MTM1; Myotubular myopathy; Myotubularin; Phosphatase; XLMTM

Indexed keywords

PHOSPHATASE;

CENTRONUCLEAR MYOPATHY; GENE FREQUENCY; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENETIC ORGANIZATION; GENETIC POLYMORPHISM; GENOTYPE; HETEROZYGOTE; HUMAN; MISSENSE MUTATION; MOSAICISM; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; REVIEW; X CHROMOSOME LINKED DISORDER;

ALTERNATIVE SPLICING; DNA TRANSPOSABLE ELEMENTS; FEMALE; HUMANS; MALE; MIDDLE AGED; MULTIGENE FAMILY; MUTATION; MUTATION, MISSENSE; MYOPATHIES, STRUCTURAL, CONGENITAL; POLYMORPHISM, GENETIC; PROTEIN-TYROSINE-PHOSPHATASE; SEQUENCE DELETION; SURVIVAL ANALYSIS; X CHROMOSOME;

EID: 0034071725     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R     Document Type: Review

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