Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 1
2003 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

2 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Myopathy, autophagic vacuolar, infantile-onset"
Page 1
Morphological changes in late onset acid Maltase deficient patients with splicing gene mutation.
Angelini C, Cenacchi G, Nascimbeni AC, Fulizio L. Angelini C, et al. Acta Myol. 2003 Dec;22(3):90-6. Acta Myol. 2003. PMID: 15088498
Morphological features in muscle biopsy showed a vacuolar myopathy and Golgi apparatus proliferation within fibres. The peripheral areas of autophagic vacuoles were positive for caveolin-3 and dystrophin, documenting an extensive membrane turnover. ... …
Morphological features in muscle biopsy showed a vacuolar myopathy and Golgi apparatus proliferation within fibres. The periph …
Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus.
Voit T, Kutz P, Leube B, Neuen-Jacob E, Schröder JM, Cavallotti D, Vaccario ML, Schaper J, Broich P, Cohn R, Baethmann M, Göhlich-Ratmann G, Scoppetta C, Herrmann R. Voit T, et al. Neuromuscul Disord. 2001 Jan;11(1):11-9. doi: 10.1016/s0960-8966(00)00158-9. Neuromuscul Disord. 2001. PMID: 11166161
(Am J Hum Genet 56(1995)422) described a single family with nine members affected by an autosomal dominant infantile onset distal myopathy. This family generated a LOD score of 2.6 for a locus on chromosome 14. We describe two families with an infan …
(Am J Hum Genet 56(1995)422) described a single family with nine members affected by an autosomal dominant infantile onset dis …