A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness

Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novelde novop.(Leu1877Pro) mutation inMYH2

(2015) M. Cabrera-Serrano et al.   CLINICAL GENETICS

MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12

(2013) Alexander Lossos et al.   BRAIN

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations

(2013) Homa Tajsharghi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Diagnosis of mitochondrial myopathies

(2013) Margherita Milone et al.   MOLECULAR GENETICS AND METABOLISM

A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies

(2013) A. D’Amico et al.   NEUROMUSCULAR DISORDERS

Myosinopathies: pathology and mechanisms

(2012) Homa Tajsharghi et al.   ACTA NEUROPATHOLOGICA

Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations

(2010) Homa Tajsharghi et al.   BRAIN