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Article

SPG7 and Impaired Emotional Communication.

Cerebellum (London, England) - 1 Apr 2017

Zhang Linwei, McFarland Karen N, Subramony S H, Heilman Kenneth M, Ashizawa Tetsuo

Abstract excerpt

The goal of this report is to describe the genetic mutations of a patient with cerebellar degeneration who had ataxia and impaired emotional communication that led to damage of family relationships. We extracted genomic DNA from peripheral blood lymphocytes and performed whole exome sequencing (WES) in this patient and his unaffected parents and siblings. Found mutations were confirmed by Sanger sequencing in...

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Share to Ataxia
Share to ATPases Associated with Diverse Cellular Activities
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Metalloendopeptidases

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Share to Spastic Paraplegia, Hereditary

Source

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Identifiers

PMID: 27557734
DOI: 10.1007/s12311-016-0818-5
PMCID: PMC5325812

Genes

SPG7

Variants

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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