Myofibrillar disorganization characterizes myopathy of camptocormia in Parkinson’s disease

Camptocormia: A Rare Axial Myopathy Disease

Camptocormia [from the Greek words: kamptos (to bend) and kormos (trunk)] is characterized by an abnormal posture of the trunk; the condition involves forced thoraco-lumbar flexion that increases during walking and disappears in the recumbent position. Camptocormia was first described by Brodie in 1818, who suggested that lumbar pain and abnormal curvature of the spine might be caused both by d...

Mitochondrial dysfunction in myofibrillar myopathy

Myofibrillar myopathies (MFM) are characterised by focal myofibrillar destruction and accumulation of myofibrillar elements as protein aggregates. They are caused by mutations in the DES, MYOT, CRYAB, FLNC, BAG3, DNAJB6 and ZASP genes as well as other as yet unidentified genes. Previous studies have reported changes in mitochondrial morphology and cellular positioning, as well as clonally-expan...

Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.

Recent human genetic studies have provided evidences that sporadic or inherited missense mutations in four-and-a-half LIM domain protein 1 (FHL1), resulting in alterations in FHL1 protein expression, are associated with rare congenital myopathies, including reducing body myopathy and Emery-Dreifuss muscular dystrophy. However, it remains to be clarified whether mutations in FHL1 cause skeletal ...

Camptocormia in Parkinson's disease.

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.

AIMS To report the clinical, pathological and genetic findings in a group of patients with a previously not described phenotype of congenital myopathy due to recessive mutations in the gene encoding the type 1 muscle ryanodine receptor channel (RYR1). METHODS Seven unrelated patients shared a predominant axial and proximal weakness of varying severity, with onset during the neonatal period, a...