New diagnostic workflow improves detection of 5q-spinal muscular atrophy

5q-spinal muscular atrophy (5q-SMA) is one of the more common types of spinal muscular atrophy (SMA) affecting around one in ten thousand individuals worldwide.

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Munich ,Bayern ,Germany ,Teresa Neuhann ,Angela Abicht ,Department Of Neurology ,Genetics Center ,Lead Investigator ,Medical Genetics Center ,Human Phenotype Ontology ,Muscular Atrophy ,Spinal Muscular Atrophy ,Allele ,Bioinformatics ,Iagnostic ,Exome Sequencing ,Gene ,Enetic ,Enetics ,Focus ,Eurology ,Ucleotide ,Henotype ,