X-linked myotubular myopathy in a family with three adult survivors

Clinical Genetics

Volumn 64, Issue 2, 2003, Pages 148-152

  Yu, Sui ^a   Manson, J ^a   White, S ^a   Bourne, A ^a   Waddy, H ^c   Davis, M ^d   Haan, E ^a,b  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c ROYAL ADELAIDE HOSPITAL   (Australia)

^d ROYAL PERTH HOSPITAL   (Australia)

Author keywords

Adult MTM patients; Mild MTM; Missense mutation; X linked myotubular myopathy

Indexed keywords

DNA; MTM1 PROTEIN; MUSCLE PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ADULTHOOD; AGAR GEL ELECTROPHORESIS; ARTICLE; CASE REPORT; CENTRONUCLEAR MYOPATHY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DAILY LIFE ACTIVITY; DNA SEQUENCE; EXON; FAMILY STUDY; GENETICS; HUMAN; INFANT; INFANT MORTALITY; MALE; MISSENSE MUTATION; MOTOR ACTIVITY; MUSCLE BIOPSY; MUSCLE STRENGTH; NEWBORN HYPOXIA; NEWBORN MORTALITY; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; SURVIVAL; WEIGHT LIFTING; X CHROMOSOME LINKAGE; X CHROMOSOME LINKED DISORDER;

BASE SEQUENCE; ELECTROPHORESIS, AGAR GEL; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MUTATION, MISSENSE; MYOPATHIES, STRUCTURAL, CONGENITAL; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 0042131676     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00118.x     Document Type: Article

References (10)

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