Autophagic vacuolar myopathy is a common feature of CLN3 disease.

ABSTRACT:

Objective

The neuronal ceroid lipofuscinoses (NCL) are genetic degenerative disorders of brain and retina. NCL with juvenile onset (JNCL) is genetically heterogeneous but most frequently caused by mutations of CLN3. Classical juvenile CLN3 includes a rare protracted form, which has previously been linked to autophagic vacuolar myopathy (AVM). Our study investigates the association of AVM with classic, non-protracted CLN3.

Methods

Evaluation of skeletal muscle biopsies from three, non-related patients with classic, non-protracted and one patient with protracted CLN3 disease by histology, immunohistochemistry, electron microscopy, and Sanger sequencing of the coding region of the CLN3 gene.

Results

We identified a novel heterozygous CLN3 mutation (c.1056+34C>A) in one o

SUBMITTER: Radke J 

PROVIDER: S-EPMC6243389 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature