X-linked myotubular myopathy with probable germline mosaicism

Clinical Neuropathology

Volumn 21, Issue 6, 2002, Pages 265-268

  Menon, K ^a   Rao, T V ^b   Bhat, B A ^a   El Amin, E O ^a  

^a KHOULA HOSPITAL   (Oman)

^b SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

Author keywords

Congenital; Germline; Mosaicism; Myotubular; X linked

Indexed keywords

MUSCLE PROTEIN; MYOTUBULARIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CENTRONUCLEAR MYOPATHY; CLINICAL FEATURE; EXON; GENE MUTATION; GERM LINE; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MOSAICISM; MUSCLE BIOPSY; MUSCLE DEVELOPMENT; MUSCLE HYPOTONIA; NEWBORN; PRIORITY JOURNAL; PROTEIN SYNTHESIS; RESPIRATORY FAILURE; SYMPTOM; X CHROMOSOME LINKED DISORDER;

ADENOSINE TRIPHOSPHATE; ADULT; BIOPSY; DESMIN; FEMALE; GENETIC DISEASES, X-LINKED; GERM-LINE MUTATION; HUMANS; INFANT, NEWBORN; MALE; MOSAICISM; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; NAD; PROTEIN-TYROSINE-PHOSPHATASE; VIMENTIN;

EID: 0036855239     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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