Harmonizome 3.0

lamin A/C

The protein encoded by this gene is part of the nuclear lamina, a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, May 2022]

muscular dystrophy, with rimmed vacuoles

limb girdle muscular dystrophy 1H (autosomal dominant)

limb girdle muscular dystrophy 1G (autosomal dominant)

Muscular dystrophy, congenital, 1B

facioscapulohumeral muscular dystrophy 1A

Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary disease of muscle. Patients with FSHD have a chromosomal rearrangement within the subtelomeric region of chromosome 4 (4q35). This region is composed mainly of a polymorphic repeat structure consisting of 3.3 kb repeat units, designated D4Z4. The number of repeat units varies from 10 to more than 100 in the population, however, in FSHD patients only 1-10 repeat units is observed because of a deletion of an integral number of these units. FSHD is caused by an epigenetic mechanism involving the contraction of a subtelomeric macrosatellite repeat, which results in marked hypomethylation of the contracted D4Z4 allele. It is likely not the structure, but the deregulation of transcription of one or more genes as a result of repeat-contraction-mediated chromatin alterations, that causes FSHD. [provided by RefSeq, Sep 2011]

facioscapulohumeral muscular dystrophy 1B

Spinal muscular atrophy, chronic distal, autosomal recessive

spinal muscular atrophy, congenital nonprogressive, of lower limbs

spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy)

muscular dystrophy, congenital, merosin-positive

Spinal muscular atrophy, Jokela type