Identification of myosin heavy chain post-translational modifications in patients with MHY mutations

ABSTRACT: Congenital myopathies are rare genetic muscle diseases notably due to mutations in the MYH2 gene. Here we assessed their myosin heavy chain post-translational modifications. For that, we purified beta/slow and type IIa myosin heavy chains from limb muscles of five patients and five healthy controls. We then ran a LC/MS analysis.

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Forelimb Muscle

DISEASE(S): Congenital Myopathy

SUBMITTER: Michael Wierer  

LAB HEAD: Julien Ochala

PROVIDER: PXD039178 | Pride | 2023-01-30

REPOSITORIES: Pride