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LAMA2 mutations in adult‐onset muscular dystrophy with leukoencephalopathy
Author(s) -
Kevelam Sietske H.,
Engelen Baziel G.M.,
Berkel Carola G.M.,
Küsters Benno,
Knaap Marjo S.
Publication year - 2014
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.24147
Subject(s) - medical genetics , neurology , medicine , pediatric neurology , muscular dystrophy , pediatrics , psychiatry , genetics , biology , gene
old electrotonus (Fig. 1), or current–voltage relationship. The lack of improvement in excitability parameters implies that both acute ischemia and a reversible neurotoxin are insufficient to explain those findings. Whatever the mechanism, a larger cohort and a longer follow-up period may be required to demonstrate significant recovery. Posttransplant studies have shown improvements in autonomic function. Our only subject with autonomic disturbance pretransplant had complete normalization of heart rate variability after transplantation. This is important, because autonomic disturbance is a marker of poor prognosis and an independent predictor of mortality and can be corrected with transplantation.