Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

doi:10.1016/j.ajhg.2017.01.019

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Article

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

American journal of human genetics - 2 Mar 2017

Osborn Daniel P S, Pond Heather L, Mazaheri Neda, Dejardin Jeremy, Munn Christopher J, Mushref Khaloob, Cauley Edmund S, Moroni Isabella, Pasanisi Maria Barbara, Sellars Elizabeth A, Hill R Sean, Partlow Jennifer N, Willaert Rebecca K, Bharj Jaipreet, Malamiri Reza Azizi, Galehdari Hamid, Shariati Gholamreza, Maroofian Reza, Mora Marina, Swan Laura E, Voit Thomas, Conti Francesco J, Jamshidi Yalda, Manzini M Chiara

Abstract excerpt

Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and molecular genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counselling. Here we report five individuals from four families presenting with variable clinical features including muscular dystrophy with a reduction in dystroglycan...

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Identifiers

PMID: 28190459
DOI: 10.1016/j.ajhg.2017.01.019
PMCID: PMC5339112

Genes

HSPA5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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