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Article

Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Sept 2024

Nurputra Dian Kesumapramudya, Sofian Jessica, Iskandar Kristy, Triono Agung, Herini Elizabeth Siti, Sunartini, Ulhaq Zulvikar Syambani

Abstract excerpt

Spinal Muscular Atrophy (SMA) emerges as a prominent genetic neuromuscular disorder primarily caused by variants in the survival motor neuron (SMN) gene. However, it is noteworthy that alternative variants impacting DYNC1H1 have also been linked to a subtype known as spinal muscular atrophy lower extremity predominant (SMA-LED). This observation underscores the complexity of SMA and highlights the necessity for...

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PMID: 38806879
DOI: 10.1007/s10072-024-07613-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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