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Dr. Michael M. Marchetti
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Michael M. Marchetti
Family Medicine
860-357-6899
135 E Main St
New Britain, CT 06051
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Last Updated: 09/26/2026
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ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
Journal:
Acta neuropathologica
Published:
October 23, 2018
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Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis.
Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis.
Journal:
Neurology. Genetics
Published:
June 13, 2018
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Last Updated: 09/26/2026