Bethlem myopathy: A study of two families

Neurology India

Volumn 58, Issue 4, 2010, Pages 665-666

  Nalini, A ^a   Gayathri, N ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH AND NEUROSCIENCES   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANAMNESIS; BETHLEM MYOPATHY; CASE REPORT; CHILD; CLINICAL FEATURE; ELECTROMYOGRAM; FEMALE; HUMAN; HUMAN TISSUE; LABORATORY TEST; LETTER; MALE; MUSCLE BIOPSY; MYOPATHY; SCHOOL CHILD; COMPUTER ASSISTED TOMOGRAPHY; FAMILY HEALTH; GENETICS; MUSCLE DISEASE; PATHOLOGY; PATHOPHYSIOLOGY;

ADULT; CHILD; FAMILY HEALTH; FEMALE; HUMANS; MALE; MUSCULAR DISEASES; TOMOGRAPHY, X-RAY COMPUTED;

EID: 77956377047     PISSN: 00283886     EISSN: 19984022     Source Type: Journal    
DOI: 10.4103/0028-3886.68684     Document Type: Letter

References (6)

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2. Lampe AK, Bushby KM. Collagen VI related muscle disorders. J Med Genet 2005;42:673-685
3. Bethlem J, Wijngaarden GK. Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees. Brain 1976;99: 91-100.
4. Merlini L, Morandi L, Granata C, Ballestrazzi A. Bethlem myopathy: early onset benign autosomal dominant myopathy with contractures: description of two new families. Neuromuscul Disord 1994;4:502-511
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6. Ishikawa H, Sugie K, Murayama K, Awaya A, Suzuki Y, Noguchi S, et al. Ullrich disease due to deficiency of collagen VI in the sarcolemma. Neurology 2004;62:620-623