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[Autosomal dominant centronuclear myopathy].
Rev Neurol (Paris). 1992; 148(10):622-30.RN

Abstract

In a family 6 members in 3 generations were affected by centronuclear myopathy (CNM) of autosomal dominant inheritance. The apparent onset was in the early forties and the disease progressed slowly. Limb weakness was predominant. Strabismus was present in 5 cases and calves hypertrophy in 3. Serum creatinine kinase was always within the normal range. In one case myotonic bursts were found at electromyography. In 2 cases brain stem auditory evoked potential studies demonstrated abnormal prolongation of interpeak latencies I-III and favoured subclinical nervous system involvement. Muscular biopsies showed typical features of centronuclear myopathy with 50 to 80% central nuclei. In two cases immunocytochemical labelling of dystrophin showed staining in the sarcoplasm in favour of an arrest in the morphogenesis of developing myofiber. Others families with autosomal dominant CNM in the literature and also some sporadic adult cases had similar clinical features.

Authors+Show Affiliations

Service de Neurologie, Hôpital du Haut-Lévêque, Pessac.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article
Review

Language

fre

PubMed ID

1295057

Citation

Ferrer, X, et al. "[Autosomal Dominant Centronuclear Myopathy]." Revue Neurologique, vol. 148, no. 10, 1992, pp. 622-30.
Ferrer X, Vital C, Coquet M, et al. [Autosomal dominant centronuclear myopathy]. Rev Neurol (Paris). 1992;148(10):622-30.
Ferrer, X., Vital, C., Coquet, M., Deleplanque, B., Ellie, E., Lagueny, A., & Julien, J. (1992). [Autosomal dominant centronuclear myopathy]. Revue Neurologique, 148(10), 622-30.
Ferrer X, et al. [Autosomal Dominant Centronuclear Myopathy]. Rev Neurol (Paris). 1992;148(10):622-30. PubMed PMID: 1295057.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Autosomal dominant centronuclear myopathy]. AU - Ferrer,X, AU - Vital,C, AU - Coquet,M, AU - Deleplanque,B, AU - Ellie,E, AU - Lagueny,A, AU - Julien,J, PY - 1992/1/1/pubmed PY - 1992/1/1/medline PY - 1992/1/1/entrez SP - 622 EP - 30 JF - Revue neurologique JO - Rev. Neurol. (Paris) VL - 148 IS - 10 N2 - In a family 6 members in 3 generations were affected by centronuclear myopathy (CNM) of autosomal dominant inheritance. The apparent onset was in the early forties and the disease progressed slowly. Limb weakness was predominant. Strabismus was present in 5 cases and calves hypertrophy in 3. Serum creatinine kinase was always within the normal range. In one case myotonic bursts were found at electromyography. In 2 cases brain stem auditory evoked potential studies demonstrated abnormal prolongation of interpeak latencies I-III and favoured subclinical nervous system involvement. Muscular biopsies showed typical features of centronuclear myopathy with 50 to 80% central nuclei. In two cases immunocytochemical labelling of dystrophin showed staining in the sarcoplasm in favour of an arrest in the morphogenesis of developing myofiber. Others families with autosomal dominant CNM in the literature and also some sporadic adult cases had similar clinical features. SN - 0035-3787 UR - https://www.unboundmedicine.com/medline/citation/1295057/[Autosomal_dominant_centronuclear_myopathy]_ L2 - http://www.diseaseinfosearch.org/result/5060 DB - PRIME DP - Unbound Medicine ER -