Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of -Related Muscular Dystrophy.

Background: LMNA-related muscular dystrophy can manifest in a wide variety of disorders, including Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), and LMNA-associated congenital muscular dystrophy (L-CMD). Muscle magnetic resonance imaging (MRI) has become a useful tool in the diagnostic workup of patients with muscle dystrophies. This study aimed to investigate whether there is a consistent pattern of MRI changes in patients with LMNA mutations in various muscle subtypes.

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.

Background: X-linked Charcot-Marie-Tooth type 1 (CMT1X) disease is one of the most common forms of inherited neuropathy caused by mutations in the gap junction beta-1 protein (GJB1) gene (also known as connexin 32). This study presented the clinical and genetic features of a series of Chinese patients with GJB1 gene mutations.

Methods: A total of 22 patients from unrelated families, who were referred to Department of Neurology, Peking University First Hospital from January 2005 to January 2016, were identified with GJB1 mutations.

Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome.

Background: Kearns-Sayre syndrome (KSS) is a mitochondrial DNA (mtDNA) deletion disorder characterized by a triad of onset before 20 years of age, ophthalmoplegia, and pigmentary retinopathy. The heart and central nervous system are commonly involved. We summarized clinical and brain magnetic resonance imaging (MRI) features of a cohort of Chinese KSS patients.

[Evaluation of vascular function in patients with Fabry disease].

Objective: To evaluate the endothelial functions and autoregulation capacity of cerebral blood flow in patients with Fabry disease.

Methods: Brachial artery vasodilation was assessed in 8 patients with Fabry disease and 14 healthy controls by means of flow-mediated dilation (FMD) and Nitroglycerin-mediated dilation (NMD). Cerebrovascular reactivity was calculated in terms of breath-holding index (BHI) and vascular motor reactivity (VMR) by TCD-CO2 test in 4 patients and 14 healthy controls.