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A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?

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Title: A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?
Authors: Mora-Roldan GA; Research Unit, Genetics Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Biomedical Research Institute, Department of Genomic Medicine, National Autonomous University of Mexico, Mexico City, Mexico., Galaviz-Hernandez C; Academia De Genómica, Instituto Politécnico Nacional-CIIDIR Durango, Durango, Mexico., Hiebert-Froese J; Clinica Medica Sur del Carmen, Durango, Mexico., Hernandez A; Institute of Cellular Physiology, Department of Cognitive Neuroscience, National Autonomous University of Mexico, Mexico City, Mexico.; National Laboratory of Channelopathies, National Autonomous University of Mexico, Mexico City, Mexico., Montes L; Research Unit, Genetics Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Duran-Pasten ML; National Laboratory of Channelopathies, National Autonomous University of Mexico, Mexico City, Mexico., Gazarian K; Biomedical Research Institute, Department of Genomic Medicine, National Autonomous University of Mexico, Mexico City, Mexico., Zenteno JC; Research Unit, Genetics Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jul; Vol. 188 (7), pp. 1972-1978. Date of Electronic Publication: 2022 Mar 11.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?
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  Data: <searchLink fieldCode="AU" term="%22Mora-Roldan+GA%22">Mora-Roldan GA</searchLink>; Research Unit, Genetics Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Biomedical Research Institute, Department of Genomic Medicine, National Autonomous University of Mexico, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Galaviz-Hernandez+C%22">Galaviz-Hernandez C</searchLink>; Academia De Genómica, Instituto Politécnico Nacional-CIIDIR Durango, Durango, Mexico.<br /><searchLink fieldCode="AU" term="%22Hiebert-Froese+J%22">Hiebert-Froese J</searchLink>; Clinica Medica Sur del Carmen, Durango, Mexico.<br /><searchLink fieldCode="AU" term="%22Hernandez+A%22">Hernandez A</searchLink>; Institute of Cellular Physiology, Department of Cognitive Neuroscience, National Autonomous University of Mexico, Mexico City, Mexico.; National Laboratory of Channelopathies, National Autonomous University of Mexico, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Montes+L%22">Montes L</searchLink>; Research Unit, Genetics Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Duran-Pasten+ML%22">Duran-Pasten ML</searchLink>; National Laboratory of Channelopathies, National Autonomous University of Mexico, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Gazarian+K%22">Gazarian K</searchLink>; Biomedical Research Institute, Department of Genomic Medicine, National Autonomous University of Mexico, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Zenteno+JC%22">Zenteno JC</searchLink>; Research Unit, Genetics Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2022 Jul; Vol. 188 (7), pp. 1972-1978. <i>Date of Electronic Publication: </i>2022 Mar 11.
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  Data: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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        Value: 10.1002/ajmg.a.62723
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      – Code: eng
        Text: English
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        StartPage: 1972
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      – TitleFull: A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?
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              Text: 2022 Jul
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              Y: 2022
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