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Article

Multi-system neurological disorder associated with a CRYAB variant.

Neurogenetics - 1 May 2021

Sadeh Menachem, Rahat Dolev, Meiner Vardiella, Fellig Yakov, Arad Michael, Schueler-Furman Ora, Hu Ying, Li Yan, Bönnemann Carsten G, Lossos Alexander

Abstract excerpt

We report a multiplex family with extended multisystem neurological phenotype associated with a CRYAB variant. Two affected siblings were evaluated with whole exome sequencing, muscle biopsy, laser microdissection, and mass spectrometry-based proteomic analysis. Both patients and their mother manifested a combination of early-onset cataracts, cardiomyopathy, cerebellar ataxia, optic atrophy, cognitive impairment,...

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Source

Identifiers

PMID: 33811585
DOI: 10.1007/s10048-021-00640-x

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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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