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Article

Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.

American journal of medical genetics. Part A - 1 Feb 2021

Sprute Rosanne, Jergas Hannah, Ölmez Akgün, Alawbathani Salem, Karasoy Hatice, Dafsari Hormos Salimi, Becker Kerstin, Daimagüler Hülya-Sevcan, Nürnberg Peter, Muntoni Francesco, Topaloglu Haluk, Uyanik Gökhan, Cirak Sebahattin

Abstract excerpt

Autosomal-recessive mutations in the Alsin Rho guanine nucleotide exchange factor (ALS2) gene may cause specific subtypes of childhood-onset progressive neurodegenerative motor neuron diseases (MND). These diseases can manifest with a clinical continuum from infantile ascending hereditary spastic paraplegia (IAHSP) to juvenile-onset forms with or without lower motor neuron involvement, the juvenile primary...

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Identifiers

PMID: 33155358
DOI: 10.1002/ajmg.a.61951

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