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Article

Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran.

Journal of molecular neuroscience : MN - 1 Nov 2021

Sharifi Zohreh, Taheri Mohammad, Fallah Mohammad-Sadegh, Abiri Maryam, Golnabi Fatemeh, Bagherian Hamideh, Zeinali Razieh, Farahzadi Hossein, Alborji Marjan, Tehrani Pardis Ghazizadeh, Amini Masoume, Asnavandi Sadaf, Hashemi Mehrdad, Forouzesh Flora, Zeinali Sirous

Abstract excerpt

Spinal muscular atrophies (SMAs) are a heterogeneous group of neuromuscular diseases characterized by loss of motor neurons, muscle weakness, hypotonia and muscle atrophy, with different modes of inheritance; however, the survival motor neuron 1 (SMN1) gene is predominantly involved. The aims of the current study were to clarify the genetic basis of SMA and determine the mutation spectrum of SMN1 and other...

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PMID: 33481221
DOI: 10.1007/s12031-020-01789-0

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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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