Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene

Human Mutation

Volumn 11, Issue 1, 1998, Pages 62-68

  Tanner, Stephan M ^a   Laporte, Jocelyn ^b   Guiraud Chaumeil, Christophe ^b   Liechti Gallati, Sabina ^c  

^a UNIVERSITY OF BERN   (Switzerland)

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

^c University of Berne ^*

Author keywords

Carrier detection; Genetic counselling; Mutational screening; Prenatal diagnosis; X linked myotubular myopathy

Indexed keywords

MYOTUBULARIN; PROTEIN TYROSINE PHOSPHATASE;

ARTICLE; ENZYMOLOGY; EXON; FEMALE; FETUS DISEASE; GENE AMPLIFICATION; GENETIC LINKAGE; GENETIC SCREENING; GENETICS; HUMAN; MALE; METHODOLOGY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUTATION; NUCLEOTIDE SEQUENCE; PREGNANCY; PRENATAL DIAGNOSIS; RECESSIVE GENE; X CHROMOSOME;

DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FETAL DISEASES; GENE AMPLIFICATION; GENES, RECESSIVE; GENETIC SCREENING; HUMANS; LINKAGE (GENETICS); MALE; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; PROTEIN-TYROSINE-PHOSPHATASE; X CHROMOSOME;

EID: 0031611594     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1998)11:1<62::aid-humu10>3.0.co;2-x     Document Type: Article

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