|

AUCD Community Inclusion

AUCD’s Community Inclusion Team supports the University Centers for Excellence in Developmental Disabilities (UCEDD) Network in partnership with the Administration for Community Living.

Learn More
|

AUCD Maternal and Child Health Engagement

AUCD’s Maternal and Child Health Engagement supports the Autism CARES Programs, including LEND and DBP Programs.

Learn More
|

AUCD Public Health

AUCD’s Public Health Team works to create health promotion and public health efforts that include people with disabilities.

Learn More
|

AUCD Emerging Leaders Community

AUCD Emerging Leaders are a part of a community that includes trainees, early career professionals, self-advocates, and family members from AUCD member Centers and Programs.

Learn More

Donate

Product

The DMD gene and dystrophinopathy phenotypes associated with mutations: a systematic review for clinicians

Center:

AZ-Institute for Human Development, UCEDD

Fiscal Year:

2022

Contact Information:

Jennifer Andrews
[email protected]
520-626-6816

Product Description:

A systematic review assessing genotype-phenotype correlations in DBMD. While there are severity differences across and within DBMD, few protective or exacerbating mutations within the gene were reported. Except for intellectual disability, clinical test results reporting genotypic information are insufficient for clinical prediction of severity and comorbidities and the predictive validity is too low to be useful when advising families.

Keyword(s):

Product/Publication Type(s):

Peer-reviewed publications in scholarly journals submitted

Target Audience:

Consumers/Families, Professionals, Policymakers, Students

Alternative Format:

To Obtain Copies (URL or Email):

COVID-19 Related Data:

N/A

1100 Wayne Avenue, Suite 1000 Silver Spring, MD 20910