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Congenital muscular dystrophy type 1A
- ... called congenital muscular dystrophies and is sometimes called congenital muscular dystrophy type 1A. Affected infants may have severe muscle weakness, lack ...
- ... myopathy Genetic Testing Registry: Ullrich congenital muscular dystrophy 1A Bethlem myopathy Congenital muscular dystrophy, Ullrich type National Organization for Rare Disorders (NORD) BETHLEM MYOPATHY ...
- ... gene cause several different muscular dystrophies. ... Gene ClinVar Inamori K, ...
- ... TYPE 2A1; CMT2A1 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE ... ATROPHY; HMSN6A NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE; HMSNR NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE; CHN1 CHARCOT-MARIE-TOOTH ...