Objective Myofibrillar myopathies (MFMs) are morphologically distinct but genetically
heterogeneous muscular dystrophies in which disintegration of Z disks and then of myofibrils is …

Mutations of lamin A/C (LMNA) cause a wide range of human disorders, including progeria,
lipodystrophy, neuropathies and autosomal dominant Emery–Dreifuss muscular dystrophy (…

The North Star Ambulatory Assessment is a functional scale specifically designed for ambulant
boys affected by Duchenne muscular dystrophy (DMD). Recently the 6-minute walk test …

The aim of this study was to investigate the suitability of the North Star Ambulatory Assessment
as a possible outcome measure in multicentric clinical trials. More specifically we wished …

Objective: Duchenne muscular dystrophy (DMD) is the most common single-gene lethal
disorder. Substantial patient–patient variability in disease onset and progression and response …

Background Some patients with autosomal recessive limb-girdle muscular dystrophy have
mutations in the genes coding for the sarcoglycan proteins (α-, β-, γ-, and δ-sarcoglycan). To …

Objective: The aim of the study was to assess different outcome measures in a cohort of
ambulant boys with Duchenne muscular dystrophy (DMD) over 12 months in order to establish …

Objectives: Myoclonic epilepsy with ragged-red fibers (MERRF) is a rare mitochondrial
syndrome, mostly caused by the 8344A>G mitochondrial DNA mutation. Most of the previous …

10.7554/eLife.44530.001 Two-dimensional (2D) human skeletal muscle fiber cultures are ill-equipped
to support the contractile properties of maturing muscle fibers. This limits their …

The authors measured coenzyme Q10 (CoQ10) concentration in muscle biopsies from 135
patients with genetically undefined cerebellar ataxia. Thirteen patients with childhood-onset …