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Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies
Author(s) -
McMacken G.,
Whittaker R. G.,
Charlton R.,
Barresi R.,
Lochmüller H.,
Horvath R.
Publication year - 2021
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.14514
Subject(s) - medicine , genetic heterogeneity , myopathy , phenotype , genetic testing , neuromuscular disease , peripheral neuropathy , disease , spinal muscular atrophy , bioinformatics , genetics , pathology , gene , biology , endocrinology , diabetes mellitus
Upper limb onset inherited neuropathies are genetically heterogeneous and in some cases there is an overlapping myopathy. Autosomal dominant GARS mutations are the most common genetic cause, however mutations in other CMT genes may also result in this phenotype in single patients. The majority of these patients cannot be genetically diagnosed by gene panel testing of known CMT and myopathy genes, suggesting further genetic heterogeneity and highlighting the importance of further genetic investigations in these patients and families.