Neuromuscular disorders : NMD
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Neuromuscul. Disord. · Jan 1997
ReviewPeripheral nerve involvement in merosin-deficient congenital muscular dystrophy and dy mouse.
Merosin, also called laminin-2, is an isoform of laminin comprised of the alpha 2, beta 1 and gamma 1 chains. Deficiency of merosin alpha 2 chain was recently identified as the primary cause of the classical form of congenital muscular dystrophy (CMD), an autosomal recessive neuromuscular disorder characterised by muscular dystrophy and brain white matter abnormalities. ⋯ Together with the well known fact that the deposition of laminin in the basement membrane is essential for Schwann cell myelination, these findings indicate that the interaction of merosin with dystroglycan and/or alpha 6 beta 4 integrin plays an important role in peripheral myelinogenesis and that the disturbance of this interaction leads to peripheral dysmyelination in merosin deficiency. The clinical significance of peripheral dysmyelination in merosin deficiency is also discussed.
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Neuromuscul. Disord. · Mar 1994
Continuous muscle fibre activity (Isaacs' syndrome) in infancy: a report of two cases.
Two cases of continuous muscle fibre activity in infancy are reported. Both infants were severely affected and died from respiratory failure. ⋯ Electrophysiological and pharmacological evidence suggests that the site of the lesion in infancy, as in older patients, is in the terminal nerve endings or motor end plate. Continuous muscle fibre activity occurring in infancy seems to be more severe than in older children or adults and seems refractory to treatment.
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Neuromuscul. Disord. · Sep 1993
Pathological findings in 165 patients explored for malignant hyperthermia susceptibility.
The pathological findings in 165 patients explored for malignant hyperthermia (MH) susceptibility are reported. The first group of 120 subjects were patients investigated for MH. These patients had suffered an attack of MH under anaesthetic or were members of families in which a subject had died of MH. ⋯ Central core myopathy was only observed in the first subgroup and was the only disease significantly associated with MH. In contrast to previous reports, this study demonstrates the absence of a specific malignant hyperthermia or exertional heat stroke myopathy. Furthermore, the discovery of MHS subjects among the EHS group of patients highlights the need for systematic exploration of all these patients.
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Neuromuscul. Disord. · Sep 1993
Case ReportsMalignant hyperthermia and central core disease: analysis of two families with heterogeneous clinical expression.
We report two families both presenting with malignant hyperthermia susceptibility and "core" or "core-like" changes in the muscle tissue. Combined analysis of the malignant hyperthermia phenotype and the histochemical findings demonstrates the complexity of their association and highly suggests genetic heterogeneity of malignant hyperthermia and central core diseases.