POMT2-related limb-girdle muscular dystrophy R14
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Genetic Advices 1
Institut für Medizinische Genetik und Humangenetik an der Charité Berlin
Berliner Centrum für Seltene Erkrankungen (BCSE) Charité Universitätsmedizin Berlin
Augustenburger Platz 1
13353 Berlin
030 450569122
030 450569915
Website
Care facilities 3
Universitäts NeuroMuskuläres Centrum am Universitätsklinikum Dresden
UniversitätsCentrum für Seltene Erkrankungen Dresden (USE) Universitätsklinikum Carl Gustav Carus Dresden
Fetscherstr. 74
01307 Dresden
0351 4583876
0351 4585802
Website
- Juvenile myasthenia gravis
- Limb-girdle muscular dystrophy
- Duchenne and Becker muscular dystrophy
- Guillain-Barré syndrome
- Dermatomyositis
- Lambert-Eaton myasthenic syndrome
- Charcot-Marie-Tooth disease type 1
- Amyotrophic lateral sclerosis
- Myotonic dystrophy
- Botulism
- Rhabdomyosarcoma
- Malignant hyperthermia of anesthesia
Zentrum für neuromuskuläre Erkrankungen im Kindesalter am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- Distal myopathy
- Amyotrophic lateral sclerosis
- Muscular dystrophy
- Limb-girdle muscular dystrophy
- Spinocerebellar ataxia with axonal neuropathy type 1
- Becker muscular dystrophy
- Motor neuron disease
- Autosomal dominant slowed nerve conduction velocity
- Microcephaly-complex motor and sensory axonal neuropathy syndrome
- Bulbospinal muscular atrophy
- Duchenne muscular dystrophy
- Proximal spinal muscular atrophy
- Emery-Dreifuss muscular dystrophy
- Distal hereditary motor neuropathy type 1
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Leukodystrophy
- Hereditary spastic paraplegia
- Neurodegeneration with brain iron accumulation
- COASY protein-associated neurodegeneration
- Huntington disease
- Rare ataxia
- Beta-propeller protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Mitochondrial disease
- Mitochondrial membrane protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Neuroferritinopathy
- Atypical pantothenate kinase-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration