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Article

A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.

Orphanet journal of rare diseases - 24 Mar 2022

Mahungu Amokelani C, Monnakgotla Nomakhosazana, Nel Melissa, Heckmann Jeannine M

Abstract excerpt

BACKGROUND: Genetic investigations of inherited neuromuscular disorders in Africans, have been neglected. We aimed to summarise the published data and comment on the genetic evidence related to inherited neuropathies (Charcot-Marie-Tooth disease (CMT)), hereditary spastic paraplegias (HSP) and spinal muscular atrophy (SMA) in Africans. METHODS: PubMed was searched for relevant articles and manual checking of...

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Identifiers

PMID: 35331287
DOI: 10.1186/s13023-022-02280-2
PMCID: PMC8944057

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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