A variant of congenital muscular dystrophy

Brain and Development

Volumn 24, Issue 1, 2002, Pages 24-29

  Yoshioka, Mieko ^a,b   Kuroki, Shigekazu ^b   Sasaki, Hiroshi ^c   Baba, Kiyoshi ^c   Toda, Tatsushi ^d  

^a Kobe City Pediatric and General Rehabilitation Center for the Challenged   (Japan)

^b KOBE CITY MEDICAL CENTER GENERAL HOSPITAL   (Japan)

^c KURASHIKI CENTRAL HOSPITAL   (Japan)

^d OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Central nervous system involvement; Congenital muscular dystrophy; Fukutin gene; Fukuyama type congenital muscular dystrophy; Variant of congenital muscular dystrophy

Indexed keywords

CREATINE KINASE; DYSTROPHIN; MEROSIN; RNA;

ARTICLE; CASE REPORT; CLINICAL FEATURE; CLINICAL TRIAL; CONSANGUINITY; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CORTICAL DYSPLASIA; CREATINE KINASE BLOOD LEVEL; DISEASE CLASSIFICATION; FACE MUSCLE; FEMALE; GENE ISOLATION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HISTOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; JOINT CONTRACTURE; MALE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PSYCHOMOTOR DISORDER; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIBLING; STAINING;

BRAIN; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; PHENOTYPE; PROTEINS; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0036137068     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(01)00384-9     Document Type: Article

References (23)

1. Congenital muscular dystrophies: 1997 Update
2. Congenital muscular dystrophy with merosin deficiency
3. Congenital progressive muscular dystrophy of the Fukuyama type - Clinical, genetic and pathological considerations
4. Muscle-Eye-Brain disease (MEB)
5. Diagnostic criteria for Walker-Warburg syndrome
6. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
7. Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD)
8. Structural organization, complete genomic sequences and mutational analyses of Fukuyama-type congenital muscular dystrophy gene, fukutin
9. Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy
10. Brain MR in Fukuyama congenital muscular dystrophy
11. Abnormal localization of laminin subunits in muscular dystrophies
12. Muscle-eye-brain disease: A neuropathological study
13. Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy
14. A male case of congenital muscular dystrophy similar to Fukuyama-type congenital muscular dystrophy
15. Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy
16. Congenital muscular dystrophy and cerebral dysgenesis in a Dutch family
17. Two Dutch siblings with congenital muscular dystrophy (Fukuyama type)
18. Fukuyama type congenital muscular dystrophy - Two Dutch siblings
19. Fukuyama congenital muscular dystrophy in two Australian female siblings
20. Broader clinical spectrum of Fukuyama-type congenital muscular dystrophy manifested by haplotype analysis
21. Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome. Commentary to Kimura's paper (p. 182-191)
22. Laminin β2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy)
23. Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping