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Article

Incontinetia pigmenti-related myopathy or unsolved "double trouble"?

Neuromuscular disorders : NMD - 1 Feb 2010

Huttner H B, Richter G, Jünemann A, Kress W, Weis J, Schröder J M, Gal A, Doerfler A, Udd B, Schröder R

Abstract excerpt

Incontinentia pigmenti is an X-linked dominant or sporadic multisystemic disorder with involvement of skin, eyes and central nervous system which results from mutations in the gene for NF-kappaB essential modulator (NEMO). We report on a patient with genetically confirmed Bloch-Sulzberger syndrome, who presented with a progressive myopathy and cardiomyopathy. Genetic analyses revealed an intragenic deletion...

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Source

Identifiers

PMID: 20064724
DOI: 10.1016/j.nmd.2009.12.006

Genes

FHL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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