1. Figure 1 Clinical aspects of LGMD subtypes
Figure 1 | Clinical aspects of LGMD subtypes. The various forms of LGMD share the symptom of proximal muscle weakness, but phenotypic presentations can be very heterogeneous. Differential diagnostic considerations also encompass cardiac and respiratory muscle involvement, the degree and pattern of joint contractures, the ethnic background of patients, disease-specific changes in muscle biopsies, and weakness of distal muscle groups. Muscle biopsy assessment includes immunoanalysis, which in a number of LGMDs can reveal specific loss of protein expression. The categorization in this figure is based on typical presentations. LGMD, limb-girdle muscular dystrophy.
Thompson, R. & Straub, V. et al. (2016) Limb-girdle muscular dystrophies — international collaborations for translational research
Nat. Rev. Neurol. doi: /nrneurol