Manifesting carrier of X-linked Duchenne muscular dystrophy

Giovanni Meola; Elio Scarpini; Vincenzo Silani; Guglielmo Scarlato

doi:10.1016/0022-510X(81)90034-4

Manifesting carrier of X-linked Duchenne muscular dystrophy

Giovanni Meola, Elio Scarpini, Vincenzo Silani, Guglielmo Scarlato

Research output: Contribution to journal › Article › peer-review

Abstract

The authors have investigated the uncommon occurrence of a boy affected with Duchenne muscular dystrophy (DMD) whose mother showed myopathic features in the clinical history, EMG, biochemical tests and muscle biopsy. This study suggests that the patient's mother is a manifesting carrier of X-linked DMD with clinical, neurophysiological, biochemical and histological findings of X-linked DMD with an almost complete inactivation of the paternal X-chromosome (lyonization).

Original language	English
Pages (from-to)	455-463
Number of pages	9
Journal	Journal of the Neurological Sciences
Volume	49
Issue number	3
DOIs	https://doi.org/10.1016/0022-510X(81)90034-4
Publication status	Published - 1981

ASJC Scopus subject areas

Ageing
Clinical Neurology
Surgery
Neuroscience(all)
Developmental Neuroscience
Neurology

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abstract = "The authors have investigated the uncommon occurrence of a boy affected with Duchenne muscular dystrophy (DMD) whose mother showed myopathic features in the clinical history, EMG, biochemical tests and muscle biopsy. This study suggests that the patient's mother is a manifesting carrier of X-linked DMD with clinical, neurophysiological, biochemical and histological findings of X-linked DMD with an almost complete inactivation of the paternal X-chromosome (lyonization).",

author = "Giovanni Meola and Elio Scarpini and Vincenzo Silani and Guglielmo Scarlato",

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AU - Silani, Vincenzo

AU - Scarlato, Guglielmo

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AB - The authors have investigated the uncommon occurrence of a boy affected with Duchenne muscular dystrophy (DMD) whose mother showed myopathic features in the clinical history, EMG, biochemical tests and muscle biopsy. This study suggests that the patient's mother is a manifesting carrier of X-linked DMD with clinical, neurophysiological, biochemical and histological findings of X-linked DMD with an almost complete inactivation of the paternal X-chromosome (lyonization).

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Manifesting carrier of X-linked Duchenne muscular dystrophy

Abstract

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