GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy.

Abstract:

:GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE. Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist. A large number of mutations in GNE are pathogenic and this clinical phenotype can be difficult to differentiate clinically from other late-onset myopathies. We describe two families with novel mutations in GNE, and describe their clinical and MRI features. We also describe the presence of striking paraspinal muscle involvement on MRI of the lumbar spine, which is an under-recognized feature of GNE myopathy.

journal_name

Front Neurol

journal_title

Frontiers in neurology

authors

Soule T,Phan C,White C,Resch L,Lacson A,Martens K,Pfeffer G

doi

10.3389/fneur.2018.00942

subject

Has Abstract

pub_date

2018-11-08 00:00:00

pages

942

issn

1664-2295

journal_volume

9

pub_type

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