Literature DB >> 9069486

Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings.

L Nashef1, B D Lake, A H Schapira.   

Abstract

Two siblings with a congenital muscular dystrophy and severe mental retardation which was not due to dystrophin, merosin, or adhalin deficiency are described. These cases overlap with congenital muscular dystrophy of the Fukuyama-type but are less severe. Atypical features include limited facial involvement, retained ambulation, and severe retrocollis.

Entities:  

Mesh：

Year:  1997        PMID： 9069486      PMCID： PMC1064160          DOI： 10.1136/jnnp.62.3.279

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  12 in total

Review 1.  Dystrophin-associated proteins and the muscular dystrophies: a glossary.

Authors:  R H Brown
Journal:  Brain Pathol       Date:  1996-01       Impact factor: 6.508

Review 2.  Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

Authors:  K P Campbell
Journal:  Cell       Date:  1995-03-10       Impact factor: 41.582

3.  Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33.

Authors:  T Toda; M Segawa; Y Nomura; I Nonaka; K Masuda; T Ishihara; M Sakai; I Tomita; Y Origuchi; M ] Suzuki M [corrected to Sakai
Journal:  Nat Genet       Date:  1993-11       Impact factor: 38.330

4.  Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome.

Authors:  S Kimura; Y Sasaki; T Kobayashi; N Ohtsuki; Y Tanaka; M Hara; S Miyake; M Yamada; H Iwamoto; N Misugi
Journal:  Brain Dev       Date:  1993 May-Jun       Impact factor: 1.961

5.  Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy.

Authors:  K Matsumura; I Nonaka; K P Campbell
Journal:  Lancet       Date:  1993-02-27       Impact factor: 79.321

6.  Clinical variation within sibships in Fukuyama-type congenital muscular dystrophy.

Authors:  M Yoshioka; S Kuroki; H Nigami; T Kawai; H Nakamura
Journal:  Brain Dev       Date:  1992-09       Impact factor: 1.961

7.  Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome.

Authors:  T Toda; M Yoshioka; Y Nakahori; I Kanazawa; Y Nakamura; Y Nakagome
Journal:  Ann Neurol       Date:  1995-01       Impact factor: 10.422

8.  Three-dimensional MR imaging of brain surface anomalies in Fukuyama-type congenital muscular dystrophy.

Authors:  T Toda; T Watanabe; K Matsumura; Y Sunada; H Yamada; I Nakano; T Mannen; I Kanazawa; T Shimizu
Journal:  Muscle Nerve       Date:  1995-05       Impact factor: 3.217

Review 9.  Muscle and brain disease: an update.

Authors:  N Gordon
Journal:  Child Care Health Dev       Date:  1994 Jul-Aug       Impact factor: 2.508

10.  Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic.

Authors:  S Ranta; H Pihko; P Santavuori; E Tahvanainen; A de la Chapelle
Journal:  Neuromuscul Disord       Date:  1995-05       Impact factor: 4.296
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