Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities

Neuromuscular Disorders

Volumn 6, Issue 5, 1996, Pages 377-381

  Mora, Marina ^a   Moroni, Isabella ^a   Uziel, Graziella ^a   Di Blasi, Claudia ^a   Barresi, Rita ^a   Farina, Laura ^b   Morandi, Lucia ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b NONE

Author keywords

Congenital muscular dystrophy; Laminin 2; Merosin; MRI

Indexed keywords

LAMININ; MEROSIN;

ARTICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; DEMYELINATING NEUROPATHY; EVOKED RESPONSE; GAIT; HUMAN; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MALE; MEROSIN DEFICIENCY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; WALKING; WHITE MATTER;

EID: 0030273796     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/0960-8966(96)00359-8     Document Type: Article

References (10)

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2. 2. Hillaire D, Leclerc A, Fauré S, et al. Localisation of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 1994; 3: 1657-1661.
3. 3. Helbling-Leclerc A, Zhang X, Topaloglu H, et al. Mutation in the laminin of α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nature Genet 1995; 11: 216-218.
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