Limb girdle and facial weakness in female carriers of x-linked myotubular myopathy mutations

Neurology

Volumn 57, Issue 5, 2001, Pages 900-902

  Sutton, Ian J ^a   Winer, J B ^a   Norman, A N ^b   Liechti Gallati, S ^c   MacDonald, F ^b  

^a QUEEN ELIZABETH HOSPITAL   (United Kingdom)

^b BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^c Inselspital   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CENTRONUCLEAR MYOPATHY; ELECTROMYOGRAM; FACE MUSCLE; FEMALE; GENE MUTATION; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MUSCLE WEAKNESS; PELVIC GIRDLE; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOMAL INHERITANCE; X CHROMOSOME INACTIVATION;

EID: 0035845707     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.5.900     Document Type: Article

References (9)

1. Skewed X-inacitvation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother
2. Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene
3. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen- Receptor gene correlates with X chromosome inactivation
4. MTM1 mutations in X-linked myotubular myopathy
5. Mutations in the MTM1 gene implicated in X-linked myotubular myopathy
6. Myotubular myopathy in a girl with a deletion at Xq27-28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region
7. A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy
8. Tissue specificity of X chromosome inactivation patterns
9. Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers