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Gewählte Publikation:

Auer-Grumbach, M; Wagner, K; Strasser-Fuchs, S; Löscher, WN; Fazekas, F; Millner, M; Hartung, HP.
Clinical predominance of proximal upper limb weakness in CMT1A syndrome.
Muscle Nerve. 2000; 23(8):1243-1249 (- Case Report)
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Autor/innen der Med Uni Graz:
Auer-Grumbach Michaela
Fazekas Franz
Fuchs Siegrid
Wagner Klaus
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Abstract:
We report an Austrian family with proximal muscle weakness and wasting predominantly of the shoulder girdle musculature, normal or slightly reduced distal muscle power, mild foot deformity, absent or reduced tendon reflexes in the lower limbs, and normal or slightly diminished sensation. Electrophysiologically, motor nerve conduction velocities were slowed to less than 33 m/s, distal latencies were prolonged, and compound motor action potentials were low. Sensory nerve conduction velocities were extremely reduced or no sensory potentials were recordable. Genetic testing in three affected individuals revealed a duplication of the chromosomal region 17p11.2. In addition, genetic testing for facioscapulohumeral muscular dystrophy (FSHD) revealed a 33 kb EcoRI fragment on chromosome 4q35 in one affected individual and in the clinically normal parent, whereas in a second affected person normal DNA-sizes were observed. These clinical findings define a new phenotypic variant associated with the Charcot-Marie-Tooth 1A duplication. This may be due to a mutation in another gene contained in the 1.5 Mb duplication although mutations in the peripheral myelin protein 22 gene have been excluded. Alternatively, the genetic background of other genes in the family may modify the phenotypic expression, as found in other inherited diseases.The unusual phenotype cannot be explained by the concomitant presence of FSHD despite some evidence for coexistance in one individual.
Find related publications in this database (using NLM MeSH Indexing)
Adult -
Arm -
Blotting, Southern -
Charcot-Marie-Tooth Disease - diagnosis
Child, Preschool - diagnosis
Electromyography - diagnosis
Family Health - diagnosis
Female - diagnosis
Foot - diagnosis
Humans - diagnosis
Male - diagnosis
Median Nerve - physiology
Muscle Weakness - diagnosis
Muscle, Skeletal - innervation
Neural Conduction - physiology
Pedigree - physiology
Peroneal Nerve - physiology
Phenotype - physiology
Shoulder Joint - physiology
Sural Nerve - physiology
Ulnar Nerve - physiology

Find related publications in this database (Keywords)
Charcot-Marie-Tooth
Davidenkow's syndrome
FSHD
HMSN 1A
phenotypic variant
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