Article
Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.
JAMA neurology - 1 Nov 2014
Agrawal Pankaj B, Joshi Mugdha, Marinakis Nicholas S, Schmitz-Abe Klaus, Ciarlini Pedro D S C, Sargent Jane C, Markianos Kyriacos, De Girolami Umberto, Chad David A, Beggs Alan H
Abstract excerpt
IMPORTANCE: Newer sequencing technologies in combination with traditional gene mapping techniques, such as linkage analysis, can help identify the genetic basis of disease for patients with rare disorders of uncertain etiology. This approach may expand the phenotypic spectrum of disease associated with those genetic mutations. OBJECTIVE: To elucidate the molecular cause of a neuromuscular disease among a family...
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