Case report of a family with hereditary inclusion body myopathy with gene variant and literature review.

Background: Missense gene variants lead to a disruption in protein homeostasis causing a spectrum of progressive degenerative diseases. Myopathy is the most frequent manifestation characterized by slowly progressing weakness of proximal and distal limb muscles. We present a family with myopathy due to c.

Cerebellar Ataxia and Peripheral Neuropathy in a Family With -Associated Disease.

Objectives: To describe clinical and genetic findings in 2 siblings with slowly progressive ataxia.

Methods: We studied 2 adult siblings through detailed physical and instrumental examinations. Whole-exome sequencing was used to identify an underlying genetic cause.

HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.

Background: Recessive loss-of-function variations in HINT1 cause a peculiar subtype of Charcot-Marie-Tooth disease: neuromyotonia and axonal neuropathy (NMAN; OMIM[#137200]). With 25 causal variants identified worldwide, HINT1 mutations are among the most common causes of recessive neuropathy. The majority of patients are compound heterozygous or homozygous for a Slavic founder variant (c.