Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1q42
نویسندگان
چکیده
منابع مشابه
Merosin-deficient congenital muscular dystrophy type 1A.
Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is the most common form of congenital muscular dystrophy. MDC1A is caused by mutation of the laminin alpha-2 gene (LAMA2), localized to chromosome 6q22-23. The diagnosis of merosin-deficient CMD is based on the clinical findings of severe congenital hypotonia, weakness, with high blood levels of creatine kinase, WM abnormalities, a...
متن کاملMerosin-positive congenital muscular dystrophy: neuroimaging findings.
Congenital muscle dystrophy (CMD) is a heterogeneous group of autosomal recessive myopathies. It is known that CMD may affect the central nervous system (CNS). Some authors have shown that merosin-negative CMD patients may have encephalic metabolic disturbances. In order to study metabolic changes within the brain, the authors performed a magnetic resonance spectroscopy (MRS) study in a 1-year-...
متن کاملMerosin-negative congenital muscular dystrophy associated with extensive brain abnormalities.
Congenital muscular dystrophies (CMDs) are autosomal recessive, heterogeneous disorders. The most frequent form in the Caucasian population is classic (occidental) CMD, characterized by exclusive muscle involvement, although abnormal brain white matter signals are occasionally observed on MRI. Recently, deficiency of merosin, the laminin isoform in skeletal muscle, has been identified in classi...
متن کاملCongenital muscular dystrophy type 1A with residual merosin expression
Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal intelligence. A mutation in the laminin α2 (LAMA2) gene, located at 6q22-23, is a genetic cause of MDC1A. Patients have merosin (laminin α2)-defic...
متن کاملCongenital Muscular Dystrophy with Merosin Deficiency : 1 H MR Spectroscopy and Diffusion - weighted MR
1 From the Clinics Hospital of the University of São Paulo, Brazil. Received December 10, 2003; revision requested February 19, 2004; revision received May 22; accepted June 28. From the 2002 RSNA Scientific Assembly. M.C.G.O., M.O.R.C., and M.T.C.L. supported by FAPESP (Fundação de Amparo à Pesquisa do Estado de São Paulo). Address correspondence to C.C.L., Rua Mário Amaral, 81 apto 121M, São ...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2000
ISSN: 0002-9297
DOI: 10.1086/302775