A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy

Neuromuscular Disorders

Volumn 10, Issue 2, 2000, Pages 133-137

  Hammans, S R ^a   Robinson, D O ^b   Moutou, C ^c   Kennedy, C R ^d   Dennis, N R ^e   Hughes, P J ^f   Ellison, D W ^d  

^a SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^b SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^c UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^d SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^e PRINCESS ANNE HOSPITAL   (United Kingdom)

^f Hurstwood Park Neurological Centre   (United Kingdom)

Author keywords

Manifesting heterozygote; MTM1 gene; X linked myotubular myopathy

Indexed keywords

MUSCLE PROTEIN; MYOTUBULARIN; PHOSPHATASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CENTRONUCLEAR MYOPATHY; DYSPHAGIA; FEMALE; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MISSENSE MUTATION; MUSCLE WEAKNESS; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

FEMALE; HETEROZYGOTE; HUMANS; LINKAGE (GENETICS); MIDDLE AGED; MUTATION, MISSENSE; MYOPATHIES, STRUCTURAL, CONGENITAL; PROTEIN-TYROSINE-PHOSPHATASE; X CHROMOSOME;

EID: 0033966316     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00073-5     Document Type: Article

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