Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients

Neuromuscular Disorders

Volumn 9, Issue 1, 1999, Pages 41-49

  Tanner, Stephan M ^a,c   Schneider, Vreni ^a   Thomas, Nick S T ^b   Clarke, Angus ^b   Lazarou, Lazarus ^b   Liechti Gallati, Sabina ^a  

^a UNIVERSITY OF BERN   (Switzerland)

^b CARDIFF UNIVERSITY   (United Kingdom)

^c OHIO STATE UNIVERSITY   (United States)

Author keywords

Diagnostic procedure; Exon skipping; Mutational origin; Mutations and deletions in MTM1; X linked myotubular myopathy

Indexed keywords

COMPLEMENTARY DNA;

CENTRONUCLEAR MYOPATHY; CONFERENCE PAPER; DELETION MUTANT; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENETIC HETEROGENEITY; GENOME; HETEROZYGOTE DETECTION; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; X CHROMOSOME LINKAGE;

ADULT; DNA; EXONS; FEMALE; GENE DELETION; GENETIC SCREENING; HETEROZYGOTE; HUMANS; LINKAGE (GENETICS); MUSCULAR DISEASES; MUTATION; PROTEIN-TYROSINE-PHOSPHATASE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; X CHROMOSOME;

EID: 0033033506     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00090-X     Document Type: Conference Paper

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